Why did we fund this project?

"At last this is a piece of work targeting that crucial stage ... long before any clinical symptoms will be present and when therapeutic intervention might be most effective."

"It does appear that early detection of AD before symptoms show will eventually lead to successful drug treatment and this research may provide a way of detecting those at risk at a very early stage."

"The author is clearly a well-qualified, well focussed and ambitious researcher attached to a major institution."

What do we already know?

Alzheimer's disease and other forms of dementia are characterised by toxic clumps of faulty proteins. Some rare forms of dementia, including Creutzfeldt-Jakob disease (CJD) are caused by a type of protein called a prion. In these conditions, the prions misfold into a toxic form and then spread throughout the brain, causing other prion proteins to misfold as well. Some researchers believe that proteins linked to other forms of dementia could also spread through the brain in a prion-like manner.

Some forms of prion disease are caused by changes to certain genes and can be inherited from a family member. Dr Mok and his colleagues at the National Prion Clinic have been working on finding ways to understand when someone is in the early stages of developing the condition. This includes developing a pioneering technique that detects toxic build ups of prion protein in the spinal fluid. This means that researchers will be able to identify at-risk people early and when exactly to begin treatment if an effective therapy becomes available.

If successful for prion protein diseases, this technique could also be effective in detecting some of the toxic proteins associated with other forms of dementia.

What does this project involve?

The researchers have previously recruited 50 people with a genetic risk of prion disease into a study that monitors their health over time. The researchers will take samples of spinal fluid every year from the participants and will examine whether there is any toxic prion protein present in the samples. This will be compared to spinal fluid taken from people who do not have a genetic link to prion diseases. The researchers will continue to assess the participants over time and will understand whether the appearance of toxic prion proteins in the spinal fluid is a reliable indicator of early disease onset.

How will this benefit people with dementia?

It is becoming increasingly clear that detecting the onset of dementia early will be key to finding effective treatments. There is no known cure for any form of dementia, including CJD and other prion-related diseases. The researchers hope that by developing and refining their detection technique, they will find a way to identify when people are in the earliest stages of the disease process. This will allow the people affected to be recruited into trials or to access any treatments as soon as possible.

Once the technique has been established for prion diseases, the researchers hope to be able to further develop and test it for proteins associated with other forms of dementia such as Alzheimer's disease.